Variant report

Variant	rs233485
Chromosome Location	chr6:14816593-14816594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14812932..14814943-chr6:14815644..14817410,3	K562	blood:
2	chr6:14814819..14819286-chr6:14819431..14823938,6	K562	blood:
3	chr6:14814509..14817952-chr6:14819306..14824906,6	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11751114	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11970548	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16875778	0.88[ASN][1000 genomes]
rs16875782	0.88[ASN][1000 genomes]
rs2031298	0.88[ASN][1000 genomes]
rs233482	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233483	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233484	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233486	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233487	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233488	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233489	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233490	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233491	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233494	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4537147	0.92[ASN][1000 genomes]
rs60681633	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62390273	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62390274	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62390275	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62390276	0.92[ASN][1000 genomes]
rs62390277	0.92[ASN][1000 genomes]
rs62390278	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62390279	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62390280	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62390283	0.88[ASN][1000 genomes]
rs62390284	0.88[ASN][1000 genomes]
rs62390285	0.88[ASN][1000 genomes]
rs62390288	0.88[ASN][1000 genomes]
rs6927683	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6939905	0.88[ASN][1000 genomes]
rs9476665	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14805400-14819000	Weak transcription	Right Atrium	heart
2	chr6:14806400-14818800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:14809000-14824400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:14810800-14819000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:14810800-14823200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:14811600-14816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:14812200-14824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:14814200-14818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:14814200-14822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:14814400-14816600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:14815400-14817000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:14815400-14817600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:14815400-14818800	Enhancers	Brain Germinal Matrix	brain
14	chr6:14815400-14820000	Enhancers	Duodenum Mucosa	Duodenum
15	chr6:14815600-14816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:14815600-14817000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:14815600-14817400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:14815600-14817800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:14815600-14818200	Enhancers	Fetal Intestine Small	intestine
20	chr6:14815800-14816800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:14815800-14817000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:14815800-14817000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:14815800-14817000	Enhancers	Brain Anterior Caudate	brain
24	chr6:14815800-14817200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:14815800-14817200	Enhancers	Fetal Intestine Large	intestine
26	chr6:14815800-14817600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:14815800-14818200	Enhancers	Ovary	ovary
28	chr6:14816000-14816800	Weak transcription	Fetal Kidney	kidney
29	chr6:14816000-14817200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:14816000-14817800	Enhancers	Brain Hippocampus Middle	brain
31	chr6:14816200-14816800	Enhancers	Osteobl	bone
32	chr6:14816200-14817000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:14816200-14817000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:14816200-14817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:14816400-14817000	Weak transcription	Adipose Nuclei	Adipose
36	chr6:14816400-14817000	Enhancers	Brain Cingulate Gyrus	brain
37	chr6:14816400-14817000	Enhancers	Brain Substantia Nigra	brain
38	chr6:14816400-14817800	Enhancers	Small Intestine	intestine
39	chr6:14816400-14818600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:14816400-14820200	Enhancers	Stomach Mucosa	stomach
41	chr6:14816400-14824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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